This gene encodes a protein which regulates Golgi-associated secretory pathways that are essential to endochondral bone formation during early development. This gene is also believed to play a role in early brain development. This gene is widely expressed in embryos and is particularly abundant in chodrocytes and brain tissues. It encodes a peripheral membrane protein which shuttles between the cytosol and Golgi complex. Mutations in this gene are associated with two types of recessive osteochondrodysplasia: Dyggve-Melchior-Clausen (DMC) dysplasia and Smith-McCort (SMC) dysplasia. [provided by RefSeq, Jun 2017]
Transcription factors with Perturb-seq knockdown data for DYM. The Binding column indicates whether any binding evidence exists for this TF–gene pair (ChIP-seq or motif footprint peaks). The Mean coef is the average Perturb-seq regression coefficient across active gRNAs (positive = DYM upregulated upon KD; negative = downregulated). The Outlier column indicates whether this gene is in the top or bottom 5% of all TF knockdown effects.
| TF | Mean coef | Binding | Outlier | TF→Gene link |
|---|
Open chromatin peaks (ATAC-seq) in the genomic neighbourhood of DYM, linked by TSS proximity or chromatin conformation (Multiome / HiCAR). Each element overlaps at least one TF ChIP-seq binding site — the TFs column shows how many distinct TFs bind that element.
| Accessibility | Element | Dist. to TSS | Link type | TFs |
|---|---|---|---|---|
| chr18:48,951,393–48,953,299 | 508.5 kb | Distal (>10kb) Multiome HiCAR | 824 | |
| chr18:48,959,553–48,960,608 | 500.7 kb | Distal (>10kb) Multiome HiCAR | 373 | |
| chr18:48,975,259–48,976,821 | 484.6 kb | Distal (>10kb) Multiome HiCAR | 578 | |
| chr18:49,252,346–49,252,812 | 208.2 kb | Distal (>10kb) Multiome | 15 | |
| chr18:49,460,079–49,460,928 | 54 bp | At TSS Multiome | 871 | |
| chr18:49,465,307–49,465,564 | 4.6 kb | Proximal (<10kb) | 127 | |
| chr18:49,486,741–49,487,756 | 26.5 kb | Distal (>10kb) Multiome | 980 | |
| chr18:49,491,896–49,492,680 | 31.8 kb | Distal (>10kb) Multiome | 825 | |
| chr18:49,500,180–49,500,915 | 39.9 kb | Distal (>10kb) Multiome | 124 | |
| chr18:49,527,826–49,528,357 | 67.5 kb | Distal (>10kb) Multiome | 61 | |
| chr18:49,560,867–49,562,777 | 101.2 kb | Distal (>10kb) Multiome | 537 | |
| chr18:49,613,011–49,613,628 | 152.6 kb | Distal (>10kb) Multiome | 220 | |
| chr18:49,723,619–49,724,545 | 263.2 kb | Distal (>10kb) Multiome | 344 | |
| chr18:49,725,786–49,726,901 | 265.6 kb | Distal (>10kb) Multiome | 248 | |
| chr18:49,759,484–49,760,451 | 299.3 kb | Distal (>10kb) Multiome HiCAR | 147 |
Genomic view of the DYM locus showing ATAC-seq accessibility and RNA-seq expression across the ESC → DE time course, together with TF binding peaks and element-to-TSS loop connections.